sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)* to sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*

Numerator Metabolite

Metabolite Accession: GCST90199995
Name: sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2)*
Hmdb Id: NA
Super Pathway: NA
Sub Pathway: NA
Inchikey: NA

Denominator Metabolite

Structure of sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Metabolite Accession: GCST90200010
Name: sphingomyelin (d18:1/22:1, d18:2/22:0, d16:1/24:1)*
Hmdb Id: HMDB0012104
Super Pathway: NA
Sub Pathway: NA
Inchikey: VBFKEZGCUWHGSK

Associated Genomic Regions

Region: rs102275

Click a 'Plot' button in the tables to the right to view a locus plot here.

Clumped rQTL variant

Loading Ratio Plot...

Loading Numerator Plot...

Loading Denominator Plot...

SNP Summary

Chr:
11
Beta (Ratio):
0.285
Position:
61557803
SE (Ratio):
0.017
Effect Allele:
C
Z-score (Ratio):
17.289
Reference Allele:
T
-log10(P):
-152.538
MAF:
0.346
Beta (Num):
0.179
Novel Locus:
No
SE (Num):
0.015
Beta (Den):
-0.106
SE (Den):
0.015
No CNV overlap
rQTL cluster:
62
Reaction Distance:
NA
Closest Genes:
TMEM258 MYRF FEN1 FADS2 FADS1

LLM Analysis

Numerator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2]

Denominator Metabolite Explanation:

Sphingolipid metabolism.4[1], 5[2]

Ratio Explanation:

The ratio reflects fatty acid desaturation in sphingomyelin synthesis, where higher FADS1/FADS2 activity results in more unsaturated fatty acids seen in the numerator.6[1], 7[2]

Ratio Evidence:

reaction where the ratio is shared through a pathway

Gene Ratio Phenotype Relationship:

Genetic variants in FADS1/FADS2 alter enzyme activity, impacting sphingomyelin composition.8[1], 6[2], 7[3] This dysregulation of lipid metabolism is linked to inflammatory and metabolic disorders like asthma and cholelithiasis, which are associated with lipid imbalances and inflammation.9[4], 10[5], 11[6], 12[7], 13[8], 14[9]

Phenotype Driver:

Gene-centric:FADS1/FADS2

Downloads

Download the full rQTL summary statistics file for this metabolite ratio. Data contains the loci listed here. For each SNP (chromosome, effect_allele, reference_allele, pos_name, position) these columns contain the summary statistics of the ratio (beta, pgain, pval, se, z), the numerator metabolite (beta_1, pval_1, n_iids_1, effect_allele_frequency_1, se_1, z_1) and the denominator metabolite (beta_2, pval_2, n_iids_2, effect_allele_frequency_2, se_2, z_2)

Download rQTL Data